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Pyruvate kinase regulatory element 1 (PKR-RE1) mediates hexokinase gene expression in K562 cells.

We have established the functional importance of PKR-RE1, a necessary transcriptional regulatory element in the erythroid-specific promoter of the human pyruvate kinase gene (PKLR). Here, we demonstrate by electrophoretic mobility shift assay (EMSA) that the DNA-protein interaction at PKR-RE1 involves a CTGTC motif. Because the same motif is also present in the erythroid-specific promoter of the hexokinase gene (HK1), we confirmed its functional relevance by in vitro transfection in K562 cells. Moreover, EMSA demonstrated that the CTGTC motif in both the PKLR and HK1 promoters mediates binding of the same protein. Therefore, we postulate a more general role of PKR-RE1 in erythroid-specific gene expression.

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PubMed1991

Inherited erythrocyte pyruvate kinase deficiency in a beagle dog.

A 1-year-old, female Beagle dog with minimal exercise intolerance was found to have a persistent, severe, and highly regenerative anemia, splenomegaly, and progressive osteosclerosis. Despite near-normal in vitro erythrocyte pyruvate kinase (PK) activity, the authors diagnosed PK deficiency by demonstrating a glycolytic block at the PK step, the lack of normal R-type PK isoenzyme, and the presence of M(2)-type PK in the animal's erythrocytes. The dam had half-normal erythrocyte PK activity, which supports an autosomal recessive mode of inheritance. We conclude from our studies that close similarities exist between erythrocyte PK deficiency in Beagle, Basenji, and West Highland White Terrier dogs and that this form of PK deficiency may be more widespread than previously thought.

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